PDLIM5, PDZ and LIM domain 5, 10611

N. diseases: 148; N. variants: 19
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs17021918
rs17021918
0.776 0.240 4 94641726 intron variant C/T snv 0.30
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma
Neoplasms; Male Urogenital Diseases 0.700 1.000 2 2009 2018
dbSNP: rs11731606
rs11731606
4 94534108 intron variant C/T snv 0.24
Platelet mean volume determination (procedure)
0.700 1.000 1 2016 2016
dbSNP: rs12500426
rs12500426
0.851 0.240 4 94593458 intron variant A/C snv 0.54
CUI: C2931822
Disease: Nasopharyngeal carcinoma
Nasopharyngeal carcinoma
Neoplasms; Stomatognathic Diseases; Otorhinolaryngologic Diseases 0.700 1.000 1 2010 2010
dbSNP: rs12500426
rs12500426
0.851 0.240 4 94593458 intron variant A/C snv 0.54
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma
Neoplasms; Male Urogenital Diseases 0.700 1.000 1 2009 2009
dbSNP: rs12500426
rs12500426
0.851 0.240 4 94593458 intron variant A/C snv 0.54
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate
Neoplasms; Male Urogenital Diseases 0.700 1.000 1 2009 2009
dbSNP: rs17021918
rs17021918
0.776 0.240 4 94641726 intron variant C/T snv 0.30
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate
Neoplasms; Male Urogenital Diseases 0.700 1.000 1 2009 2009
dbSNP: rs17021918
rs17021918
0.776 0.240 4 94641726 intron variant C/T snv 0.30
CUI: C2931822
Disease: Nasopharyngeal carcinoma
Nasopharyngeal carcinoma
Neoplasms; Stomatognathic Diseases; Otorhinolaryngologic Diseases 0.700 1.000 1 2010 2010
dbSNP: rs200495769
rs200495769
1.000 0.120 4 94573377 missense variant C/T snv 1.0E-04 1.3E-04
Precursor Cell Lymphoblastic Leukemia Lymphoma
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.700 1.000 1 2016 2016
dbSNP: rs2452600
rs2452600
0.925 0.080 4 94575731 missense variant C/T snv 0.27 0.25
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease
Cardiovascular Diseases 0.700 1.000 1 2018 2018
dbSNP: rs4699299
rs4699299
1.000 4 94580015 intron variant T/C snv 0.25
CUI: C2242776
Disease: Plexiform leiomyoma
Plexiform leiomyoma
0.700 1.000 1 2019 2019
dbSNP: rs4699299
rs4699299
1.000 4 94580015 intron variant T/C snv 0.25
CUI: C0042133
Disease: Uterine Fibroids
Uterine Fibroids
Neoplasms 0.700 1.000 1 2019 2019
dbSNP: rs2433322
rs2433322
0.925 0.040 4 94458590 intron variant A/G snv 0.37
CUI: C0036341
Disease: Schizophrenia
Schizophrenia
Mental Disorders 0.020 1.000 2 2006 2008
dbSNP: rs11097431
rs11097431
0.925 0.040 4 94585691 synonymous variant G/A snv 0.18 0.22
CUI: C0005586
Disease: Bipolar Disorder
Bipolar Disorder
Mental Disorders 0.010 < 0.001 1 2013 2013
dbSNP: rs11097431
rs11097431
0.925 0.040 4 94585691 synonymous variant G/A snv 0.18 0.22
CUI: C0036341
Disease: Schizophrenia
Schizophrenia
Mental Disorders 0.010 < 0.001 1 2013 2013
dbSNP: rs11097432
rs11097432
1.000 0.080 4 94658554 intron variant T/C snv 0.24
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease
Cardiovascular Diseases 0.010 1.000 1 2017 2017
dbSNP: rs11097432
rs11097432
1.000 0.080 4 94658554 intron variant T/C snv 0.24
Diabetes Mellitus, Non-Insulin-Dependent
Nutritional and Metabolic Diseases; Endocrine System Diseases 0.010 1.000 1 2017 2017
dbSNP: rs12500426
rs12500426
0.851 0.240 4 94593458 intron variant A/C snv 0.54
Diabetes Mellitus, Non-Insulin-Dependent
Nutritional and Metabolic Diseases; Endocrine System Diseases 0.010 1.000 1 2017 2017
dbSNP: rs12500426
rs12500426
0.851 0.240 4 94593458 intron variant A/C snv 0.54
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease
Cardiovascular Diseases 0.010 1.000 1 2017 2017
dbSNP: rs1318234609
rs1318234609
1.000 0.080 4 94579531 missense variant T/C snv 1.4E-05
CUI: C0242343
Disease: Panhypopituitarism
Panhypopituitarism
Nervous System Diseases; Endocrine System Diseases 0.010 1.000 1 2010 2010
dbSNP: rs1329032366
rs1329032366
0.882 0.080 4 94654530 missense variant A/G snv 4.0E-06
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung
Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2008 2008
dbSNP: rs1329032366
rs1329032366
0.882 0.080 4 94654530 missense variant A/G snv 4.0E-06
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung
Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2008 2008
dbSNP: rs1329032366
rs1329032366
0.882 0.080 4 94654530 missense variant A/G snv 4.0E-06
CUI: C0027651
Disease: Neoplasms
Neoplasms
Neoplasms 0.010 1.000 1 2008 2008
dbSNP: rs1329032366
rs1329032366
0.882 0.080 4 94654530 missense variant A/G snv 4.0E-06
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung
Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2008 2008
dbSNP: rs1329032366
rs1329032366
0.882 0.080 4 94654530 missense variant A/G snv 4.0E-06
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion
0.010 1.000 1 2008 2008
dbSNP: rs17021918
rs17021918
0.776 0.240 4 94641726 intron variant C/T snv 0.30
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2013 2013